Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCND3 gene for Spinocerebellar ataxia type 22, autosomal dominant

PreTest Information

Clinical History of Patient who is going for KCND3 Gene Spinocerebellar ataxia type 22, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCND3 Gene Spinocerebellar ataxia type 22, autosomal dominant

Detail Description

KCND3 Gene Spinocerebellar Ataxia Type 22: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Spinocerebellar ataxia type 22 (SCA22) is a rare hereditary neurodegenerative disorder that affects the cerebellum and spinal cord. It is caused by mutations in the KCND3 gene, which codes for a potassium ion channel protein. SCA22 is an autosomal dominant disease, which means that only one copy of the mutated gene is needed to develop the disease.

Symptoms of SCA22

The symptoms of SCA22 usually appear in middle age and progress gradually over time. These symptoms include:

• Uncoordinated movements
• Difficulty with balance and coordination
• Slurred speech
• Muscle weakness and atrophy
• Vision problems

The severity of symptoms can vary from person to person, even within the same family.

Diagnosis of SCA22

SCA22 can be diagnosed through genetic testing. A blood or saliva sample is taken from the patient, and the DNA is analyzed for mutations in the KCND3 gene.

Other diagnostic tests may be used to rule out other causes of ataxia, such as brain imaging and nerve conduction studies.

NGS Genetic DNA Test Cost

Next-generation sequencing (NGS) is a powerful tool for genetic testing. It allows for the analysis of multiple genes at once, which can be useful in diagnosing rare diseases like SCA22.

The cost of NGS genetic testing for SCA22 in India is approximately INR 20,000. This cost may vary depending on the specific laboratory and the extent of the genetic analysis required.

Conclusion

SCA22 is a rare hereditary neurodegenerative disorder that can cause a range of symptoms, including uncoordinated movements, difficulty with balance and coordination, slurred speech, muscle weakness and atrophy, and vision problems. It can be diagnosed through genetic testing, including NGS genetic testing, which has a cost of approximately INR 20,000 in India.

If you or a loved one is experiencing symptoms of SCA22, it is important to seek medical attention and consider genetic testing for an accurate diagnosis.

DNA Labs India provides reliable and affordable genetic testing services for a range of diseases, including SCA22. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for KCND3 Gene Spinocerebellar ataxia type 22, autosomal dominant NGS Genetic DNA Test